Variant report

Variant	nsv1008578
Chromosome Location	chr3:139907172-139942453
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:139905931..139907924-chr3:139914336..139916960,2	K562	blood:
2	chr3:139915235..139917863-chr3:139919507..139921140,2	K562	blood:
3	chr3:139913497..139915045-chr3:139916643..139919056,2	K562	blood:
4	chr3:139873836..139876088-chr3:139924820..139926780,2	MCF-7	breast:
5	chr3:139913497..139916210-chr3:139916643..139919277,2	K562	blood:
6	chr3:139922220..139924561-chr3:139926417..139928588,2	MCF-7	breast:
7	chr3:139901794..139903880-chr3:139906327..139907878,2	K562	blood:
8	chr3:139812354..139813315-chr3:139925264..139926151,2	MCF-7	breast:
9	chr3:139915235..139917863-chr3:139919507..139921140,2	K562	blood:
10	chr3:139913497..139916210-chr3:139916643..139919277,2	K562	blood:
11	chr3:139913497..139915045-chr3:139916643..139919056,2	K562	blood:
12	chr3:139847064..139848119-chr3:139934734..139936056,6	MCF-7	breast:
13	chr21:45665131..45666965-chr3:139933068..139935333,2	MCF-7	breast:
14	chr3:139936684..139939530-chr3:139941057..139942593,2	MCF-7	breast:
15	chr3:139847140..139848104-chr3:139925061..139926084,5	MCF-7	breast:
16	chr3:139847304..139848053-chr3:139938391..139939118,2	MCF-7	breast:
17	chr3:139811749..139812473-chr3:139934801..139935433,2	MCF-7	breast:
18	chr3:139811764..139812310-chr3:139934838..139935561,2	MCF-7	breast:
19	chr3:139907221..139909210-chr3:139909774..139912036,2	MCF-7	breast:
20	chr3:139907221..139909210-chr3:139909774..139912036,2	MCF-7	breast:
21	chr3:139922220..139924561-chr3:139926417..139928588,2	MCF-7	breast:
22	chr3:139905931..139907924-chr3:139914336..139916960,2	K562	blood:
23	chr3:139936684..139939530-chr3:139941057..139942593,2	MCF-7	breast:

No data

Extended variants
information (count: 1284 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1284 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563451473	chr3:139907178-139907179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142371253	chr3:139907179-139907180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146338417	chr3:139907201-139907202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138958901	chr3:139907230-139907231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188182768	chr3:139907257-139907258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575608830	chr3:139907272-139907273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546942924	chr3:139907309-139907310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565149614	chr3:139907331-139907332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532596208	chr3:139907332-139907333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550797515	chr3:139907368-139907369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569102337	chr3:139907391-139907392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536486023	chr3:139907395-139907396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369693216	chr3:139907397-139907398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11706003	chr3:139907434-139907435	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs117860986	chr3:139907479-139907480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9810392	chr3:139907483-139907484	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs572300172	chr3:139907512-139907513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs180935357	chr3:139907513-139907514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11713717	chr3:139907534-139907535	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs556820618	chr3:139907545-139907546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185648622	chr3:139907546-139907547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113140632	chr3:139907574-139907575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561086830	chr3:139907579-139907580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191301101	chr3:139907583-139907584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370348717	chr3:139907626-139907627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540163855	chr3:139907633-139907634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73226961	chr3:139907640-139907641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142917156	chr3:139907669-139907670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144583195	chr3:139907681-139907682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562674211	chr3:139907707-139907708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11706113	chr3:139907716-139907717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541218606	chr3:139907775-139907776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73226963	chr3:139907813-139907814	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs374130910	chr3:139907826-139907827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78926704	chr3:139907849-139907850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368560852	chr3:139907940-139907941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181872094	chr3:139907945-139907946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186939719	chr3:139908044-139908045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574693368	chr3:139908059-139908060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552641513	chr3:139908067-139908068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571213580	chr3:139908082-139908083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75104180	chr3:139908083-139908084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557071233	chr3:139908118-139908119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568944119	chr3:139908130-139908131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191910409	chr3:139908136-139908137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554762070	chr3:139908140-139908141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573076189	chr3:139908169-139908170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540514470	chr3:139908207-139908208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530382201	chr3:139908226-139908227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148037193	chr3:139908263-139908264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Ependymoma	20639864	CNVD
Dyslexia	22102821	CNVD
Pancreatic cancer	17952125	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Cancer	20164919	CNVD
Ovarian cancer	17875760	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Autism	19246517	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139901600-139915000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:139902800-139907400	Enhancers	Fetal Muscle Leg	muscle
3	chr3:139903400-139907600	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr3:139903600-139908000	Enhancers	Fetal Heart	heart
5	chr3:139904800-139907200	Enhancers	Brain Substantia Nigra	brain
6	chr3:139905000-139908000	Enhancers	Brain Germinal Matrix	brain
7	chr3:139905200-139908000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr3:139905800-139907200	Enhancers	Lung	lung
9	chr3:139905800-139907400	Enhancers	Ovary	ovary
10	chr3:139905800-139907400	Enhancers	Pancreas	Pancrea
11	chr3:139905800-139907400	Enhancers	Psoas Muscle	Psoas
12	chr3:139905800-139907400	Enhancers	Right Atrium	heart
13	chr3:139905800-139907600	Enhancers	Left Ventricle	heart
14	chr3:139905800-139907800	Enhancers	Right Ventricle	heart
15	chr3:139906400-139907200	Weak transcription	Aorta	Aorta
16	chr3:139906400-139913000	Weak transcription	HSMMtube	muscle
17	chr3:139907000-139907400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:139907200-139907400	Enhancers	Aorta	Aorta
19	chr3:139907400-139908600	Weak transcription	Fetal Muscle Leg	muscle
20	chr3:139907400-139908800	Weak transcription	Psoas Muscle	Psoas
21	chr3:139907600-139908800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr3:139908000-139908800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr3:139908600-139909000	Enhancers	Fetal Muscle Leg	muscle
24	chr3:139908800-139909200	Enhancers	Psoas Muscle	Psoas
25	chr3:139908800-139909200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr3:139908800-139909200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr3:139909200-139917000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr3:139913000-139913200	ZNF genes & repeats	HSMMtube	muscle
29	chr3:139913200-139913600	Weak transcription	HSMMtube	muscle
30	chr3:139913800-139914000	Enhancers	Aorta	Aorta
31	chr3:139915000-139915400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:139915000-139915400	Enhancers	Fetal Muscle Leg	muscle
33	chr3:139915200-139915400	Enhancers	Brain Angular Gyrus	brain
34	chr3:139915200-139918000	Enhancers	Right Atrium	heart
35	chr3:139915200-139918400	Enhancers	Brain Anterior Caudate	brain
36	chr3:139915200-139920000	Enhancers	Brain Cingulate Gyrus	brain
37	chr3:139915400-139916000	Enhancers	Psoas Muscle	Psoas
38	chr3:139915400-139916400	Weak transcription	Brain Angular Gyrus	brain
39	chr3:139915400-139917000	Weak transcription	Fetal Muscle Leg	muscle
40	chr3:139915400-139918600	Enhancers	Brain Hippocampus Middle	brain
41	chr3:139915600-139915800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:139915600-139916000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr3:139915600-139920400	Enhancers	Brain Substantia Nigra	brain
44	chr3:139915800-139916400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:139916000-139917200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr3:139916000-139919600	Weak transcription	Psoas Muscle	Psoas
47	chr3:139916400-139917400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:139916400-139918000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr3:139916400-139920200	Enhancers	Brain Angular Gyrus	brain
50	chr3:139916400-139920200	Enhancers	Brain Inferior Temporal Lobe	brain

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